"Sydney Genome Diagnostics, Children's Hospital Westmead"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988125	NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro)	AXDND1, NPHS2 (R254P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988166	NM_014625.4(NPHS2):c.923C>T (p.Ala308Val)	AXDND1, NPHS2 (A240V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 370718	NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	AXDND1, NPHS2 (A297V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 988167	NM_014625.4(NPHS2):c.550_551del (p.Met184fs)	NPHS2 (M184fs)	Deletion (frameshift variant +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2 (R138Q)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic

ClinVar